update on the genetics of kidney disease
DESCRIPTION
Update on the Genetics of Kidney Disease. Kenneth V. Lieberman, MD Chief, Division of Pediatric Nephrology The Joseph M. Sanzari Children’s Hospital Hackensack University Medical Center Professor of Pediatrics UMDNJ – New Jersey Medical School. Goals. Educate Enlighten Energize Empower - PowerPoint PPT PresentationTRANSCRIPT
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Update on the Genetics of Kidney Disease
Kenneth V. Lieberman, MDChief, Division of Pediatric Nephrology
The Joseph M. Sanzari Children’s HospitalHackensack University Medical Center
Professor of PediatricsUMDNJ – New Jersey Medical School
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Goals
• Educate• Enlighten• Energize• Empower• Entertain
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Genetics Practice• Traditional
– Inheritance patterns– Syndrome recognition
• Modern– Mutation finding– Ameliorating therapy– Diagnostic tools – substrate testing, genetic
testing• Future
– Gene therapy– Human genome project
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Central Dogma
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Autosomal Dominant
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Autosomal Recessive
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X-Linked
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Lyonization
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Family history
• The lack of a history is not a negative history
• Consanguinity – autosomal recessive• Maternal uncles – X-linked• Children – presence, state of health• Update• Update• Update
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Questions for patient
• Health problems other than ESRD and its related complications
• Diseases in the family, outside of the usual (i.e., MI, strokes, DM, HTN) – map out
• Update• Update• Update
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KDW
• Survey data: ESRD of unknown etiology– 10-30%– Glomerulosclerosis – “scarred”– Hypoplasia/dysplasia – “small”– Inadequate/incomplete diagnosis
• glomerulonephritis• hypertension
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Importance• Patient’s own care
– Piece of mind– Missing other disease manifestation– Transplant recurrence– Treatment
• Finding pre-symptomatic relatives (kids)– Prophylactic treatment
• Counseling of young couples– Prenatal diagnosis– Carrier detection
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Genetic testing
• Diagnostic testing• Predictive testing• Prognostic testing• Carrier testing• Preimplantation testing• Prenatal testing• Newborn screening
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Examples (1)• Medullary Cystic Kidney Disease (UMOD)
– Autosomal dominant – high transmission risk– Gout
• FSGS– Might be autosomal recessive– High transplant recurrence risk
• Alport– Mostly X-linked– Mothers (female carriers are variably
symptomatic, mostly minimal)
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Examples (2)
• Fabry’s Disease– X-linked– Specific treatment available– Transplant implications (extra benefit)
• Atypical Hemolytic-Uremic Syndrome– Different inheritance patterns– Transplant implications (liver as well as
kidney)
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Examples (3)
• Polycystic Kidney Disease– Distinguish AR from AD (other organ
involvement)– Early detection – treatment available– Distinguish from Von Hippel-Lindau
• Nephrogenic Diabetes Insipidus– X-linked– Early detection
• Dehydration risk
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Put the nephrologist on the spot
• Did you consider…• I found out that…• Do you want to consider a referral to…• Do you want to consider genetic testing?